Product Details

SNP ID
rs201912976
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.22:29330526 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTGCTGCTCTGCAGCTTGCTGCTC[A/G]CAGCCTCTGTGGGGTCACATGGCCG
Phenotype
MIM: 600157
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
AP1B1 PubMed Links

Gene Details

Gene
AP1B1
Gene Name
adaptor related protein complex 1 beta 1 subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001127.3 2784 Missense Mutation GCG,GTG A873V NP_001118.3
NM_001166019.1 2784 Missense Mutation GCG,GTG A846V NP_001159491.1
NM_145730.2 2784 Missense Mutation GCG,GTG A866V NP_663782.2
Gene
MIR3653
Gene Name
microRNA 3653
There are no transcripts associated with this gene.

Gene
SNORD125
Gene Name
small nucleolar RNA, C/D box 125
There are no transcripts associated with this gene.

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